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Items: 8

1.

INFERNO: inferring the molecular mechanisms of noncoding genetic variants.

Amlie-Wolf A, Tang M, Mlynarski EE, Kuksa PP, Valladares O, Katanic Z, Tsuang D, Brown CD, Schellenberg GD, Wang LS.

Nucleic Acids Res. 2018 Sep 28;46(17):8740-8753. doi: 10.1093/nar/gky686.

2.

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3.

Guo T, Repetto GM, McDonald McGinn DM, Chung JH, Nomaru H, Campbell CL, Blonska A, Bassett AS, Chow EWC, Mlynarski EE, Swillen A, Vermeesch J, Devriendt K, Gothelf D, Carmel M, Michaelovsky E, Schneider M, Eliez S, Antonarakis SE, Coleman K, Tomita-Mitchell A, Mitchell ME, Digilio MC, Dallapiccola B, Marino B, Philip N, Busa T, Kushan-Wells L, Bearden CE, Piotrowicz M, Hawuła W, Roberts AE, Tassone F, Simon TJ, van Duin EDA, van Amelsvoort TA, Kates WR, Zackai E, Johnston HR, Cutler DJ, Agopian AJ, Goldmuntz E, Mitchell LE, Wang T, Emanuel BS, Morrow BE; International 22q11.2 Consortium/Brain and Behavior Consortium*.

Circ Cardiovasc Genet. 2017 Oct;10(5). pii: e001690. doi: 10.1161/CIRCGENETICS.116.001690.

3.

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome.

Mlynarski EE, Xie M, Taylor D, Sheridan MB, Guo T, Racedo SE, McDonald-McGinn DM, Chow EW, Vorstman J, Swillen A, Devriendt K, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Philip N, Simon TJ, Roberts AE, Piotrowicz M, Bearden CE, Eliez S, Gothelf D, Coleman K, Kates WR, Devoto M, Zackai E, Heine-Suñer D, Goldmuntz E, Bassett AS, Morrow BE, Emanuel BS; International Chromosome 22q11.2 Consortium.

Hum Genet. 2016 Mar;135(3):273-85. doi: 10.1007/s00439-015-1623-9. Epub 2016 Jan 7.

4.

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.

Mlynarski EE, Sheridan MB, Xie M, Guo T, Racedo SE, McDonald-McGinn DM, Gai X, Chow EW, Vorstman J, Swillen A, Devriendt K, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Philip N, Simon TJ, Roberts AE, Piotrowicz M, Bearden CE, Eliez S, Gothelf D, Coleman K, Kates WR, Devoto M, Zackai E, Heine-Suñer D, Shaikh TH, Bassett AS, Goldmuntz E, Morrow BE, Emanuel BS; International Chromosome 22q11.2 Consortium.

Am J Hum Genet. 2015 May 7;96(5):753-64. doi: 10.1016/j.ajhg.2015.03.007. Epub 2015 Apr 16.

5.

Centromere conversion and retention in somatic cell hybrids.

Brown JD, Carone DM, Flynn BL, Finn CE, Mlynarski EE, O'Neill RJ.

Cytogenet Genome Res. 2011;134(3):182-90. doi: 10.1159/000328830. Epub 2011 Jun 29.

PMID:
21709412
6.

A unique late-replicating XY to autosome translocation in Peromyscus melanophrys.

Mlynarski EE, Obergfell C, Dewey MJ, O'Neill RJ.

Chromosome Res. 2010 Feb;18(2):179-89. doi: 10.1007/s10577-010-9113-3. Epub 2010 Feb 23.

PMID:
20177772
7.

Divergent patterns of breakpoint reuse in Muroid rodents.

Mlynarski EE, Obergfell CJ, O'Neill MJ, O'Neill RJ.

Mamm Genome. 2010 Feb;21(1-2):77-87. doi: 10.1007/s00335-009-9242-1. Epub 2009 Dec 22.

PMID:
20033182
8.

Peromyscus maniculatus--Mus musculus chromosome homology map derived from reciprocal cross species chromosome painting.

Mlynarski EE, Obergfell CJ, Rens W, O'Brien PC, Ramsdell CM, Dewey MJ, O'Neill MJ, O'Neill RJ.

Cytogenet Genome Res. 2008;121(3-4):288-92. doi: 10.1159/000138900. Epub 2008 Aug 29.

PMID:
18758174

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